Porphyria is a group of metabolic disorders that call for a build up of porphyrins in your body. They are supposed to be in your body, but porphyrins are not supposed to build up in your body like they do in porphyria. Usually, the cause for this happening is an inherited mutation. Porphyria affects your skin and nervous system. It could affect your skin individually or even your nervous system individually, but overall, it is possible it could attack both at the same time. There is no sure cure for porphyria but there are things to manage porphyria, depending on which kind of porphyria you have. Symptoms of this disease include affecting the nervous system in acute porphyria. It causes abdominal pain, vomiting, acute neuropathy, weak muscles, and seizures. It also can cause such mental disturbances like hallucinations, anxiety, depression and paranoia. The skin part of porphyria usually occurs in cutaneous porphyria. It causes photosensitivity, blisters, necrosis of the skin and gums in your mouth, itching, swelling, and even increased hair growth.
Molecular Basis of Disease:
Acute porphyria is an autosomal error of metabolism from the activity of HMB synthase, known as the heme biosynthetic pathway. There are two HMB-synthase isozymes are encoded by the gene. The isozymes come from a single gene from splicing. The mutations of these involve deletions and insertions, screwing everything up. The deletions and insertions are the ones involved in the build up of these porphyrias. This one exactly is the nervous system or acute porphyria. Factors that could trigger AIP could be from alcohol, fasting, drugs and certain hormones. The process is similar for the cutaneous porphyria which affects your skin, it just depends on your genes. The processes are similar because you can have both forms of porphyria at the same time. Porphyria is a genetic disease and you can't catch it. It all depends on if your family has previously had it. If your family has previously had it, it is very, very likely you will get this horrible disorder.
Porphyria
Table of Contents
Introduction:
Porphyria is a group of metabolic disorders that call for a build up of porphyrins in your body. They are supposed to be in your body, but porphyrins are not supposed to build up in your body like they do in porphyria. Usually, the cause for this happening is an inherited mutation. Porphyria affects your skin and nervous system. It could affect your skin individually or even your nervous system individually, but overall, it is possible it could attack both at the same time. There is no sure cure for porphyria but there are things to manage porphyria, depending on which kind of porphyria you have. Symptoms of this disease include affecting the nervous system in acute porphyria. It causes abdominal pain, vomiting, acute neuropathy, weak muscles, and seizures. It also can cause such mental disturbances like hallucinations, anxiety, depression and paranoia. The skin part of porphyria usually occurs in cutaneous porphyria. It causes photosensitivity, blisters, necrosis of the skin and gums in your mouth, itching, swelling, and even increased hair growth.Molecular Basis of Disease:
Acute porphyria is an autosomal error of metabolism from the activity of HMB synthase, known as the heme biosynthetic pathway. There are two HMB-synthase isozymes are encoded by the gene. The isozymes come from a single gene from splicing. The mutations of these involve deletions and insertions, screwing everything up. The deletions and insertions are the ones involved in the build up of these porphyrias. This one exactly is the nervous system or acute porphyria. Factors that could trigger AIP could be from alcohol, fasting, drugs and certain hormones. The process is similar for the cutaneous porphyria which affects your skin, it just depends on your genes. The processes are similar because you can have both forms of porphyria at the same time. Porphyria is a genetic disease and you can't catch it. It all depends on if your family has previously had it. If your family has previously had it, it is very, very likely you will get this horrible disorder.Works Cited:
http://taimapedia.org/images/5/5a/Paranoia.jpghttp://5minuteconsult.com/loadMedia.ashx?bookname=idams&filename=Porphyria.jpg
http://www.ncbi.nlm.nih.gov/pubmed/7866402
http://en.wikipedia.org/wiki/Porphyria
http://www.mayoclinic.org/diseases-conditions/porphyria/basics/definition/con-20028849